Mutated PET117 causes complex IV deficiency and is associated with neurodevelopmental regression and medulla oblongata lesions
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DOI: 10.1007/s00439-017-1794-7
Abstract: The genetic basis of the many progressive, multi systemic, mitochondrial diseases that cause a lack of cellular ATP production is heterogeneous, with defects found both in the mitochondrial genome as well as in the nuclear… read more here.
Keywords: medulla oblongata; mutated pet117; mitochondrial disease; complex deficiency ... See more keywords